Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome
作者: Isabel Huber-RuanoEkaitz Errasti-MurugarrenValeria GodoyÁngel VeraAntoni L. AndreuElena Garcia-ArumiRamon MartíMarçal Pastor-Anglada
作者单位: 1Departament de Bioquímica i Biologia Molecular, Institut de Biomedicina, Universitat de Barcelona (IBUB) – Institut de Biomedicina de la Universitat de Barcelona, Spain
2Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Instituto de Salud Carlos III, Barcelona, Spain
3Servicio de Dermatología, Hospital Carlos Haya, Málaga, Spain
4Departament de Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca, Barcelona, Spain
5Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain
刊名: Biochemical and Biophysical Research Communications, 2012, Vol.428 (4), pp.532-537
来源数据库: Elsevier Journal
DOI: 10.1016/j.bbrc.2012.09.143
关键词: Nucleoside transportermtDNA depletionSLC29A3mtDNA copy numberH syndrome
英文摘要: Abstract(#br)The H syndrome (OMIM 612391 ) is an autosomal recessive disorder characterized by hyperpigmentation, hypertrichosis, histiocytosis and short stature. It is caused by mutations in the SLC29A3 gene, which encodes for the equilibrative nucleoside transporter 3 protein (ENT3), of still uncertain subcellular localisation. Here we report a new case of H syndrome with the novel mutation c.243delA, which has been concomitantly described by others [A. Bolze, A. Abhyankar, A.V. Grant, B. Patel, R. Yadav, M. Byun, D. Caillez, J.F. Emile, M. Pastor-Anglada, L. Abel, A. Puel, R. Govindarajan, L. de Pontual, J.L. Casanova, A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant, PLoS ONE 7 (2012) e29708]....
全文获取路径: Elsevier  (合作)